Variant report

Variant	nsv880389
Chromosome Location	chr5:52333420-52375199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52342580..52344559-chr5:52347867..52350544,2	K562	blood:
2	chr5:52351776..52352321-chr9:91925750..91926479,2	MCF-7	breast:
3	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
4	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
5	chr5:52340133..52343071-chr5:52343982..52345648,2	K562	blood:
6	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
7	chr5:52340133..52343071-chr5:52343982..52345648,2	K562	blood:
8	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
9	chr5:52326404..52328383-chr5:52333260..52335027,2	MCF-7	breast:
10	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:
11	chr5:52285122..52287993-chr5:52333837..52337640,3	MCF-7	breast:
12	chr5:52342580..52344559-chr5:52347867..52350544,2	K562	blood:
13	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
14	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123975	chromatin interactions
ENSG00000249899	chromatin interactions
ENSG00000164171	chromatin interactions

Extended variants
information (count: 1668 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1668 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs989073	chr5:52333420-52333421	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537379708	chr5:52333438-52333439	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs552185591	chr5:52333519-52333520	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs115634519	chr5:52333587-52333588	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs534660712	chr5:52333630-52333631	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs553053967	chr5:52333698-52333699	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs574566859	chr5:52333713-52333714	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs3797499	chr5:52333744-52333745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs557570235	chr5:52333766-52333767	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs373811746	chr5:52333859-52333860	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568970840	chr5:52333920-52333921	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537361166	chr5:52333937-52333938	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3797498	chr5:52333939-52333940	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190870142	chr5:52333944-52333945	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559505490	chr5:52334000-52334001	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575658745	chr5:52334037-52334038	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372570361	chr5:52334038-52334039	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397882796	chr5:52334052-52334053	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142046611	chr5:52334071-52334072	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113169987	chr5:52334087-52334088	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547954585	chr5:52334094-52334095	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183412786	chr5:52334100-52334101	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530609635	chr5:52334107-52334108	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555084437	chr5:52334108-52334109	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143094235	chr5:52334137-52334138	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369623473	chr5:52334148-52334149	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373215087	chr5:52334168-52334169	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs151292271	chr5:52334172-52334173	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546557857	chr5:52334198-52334199	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140557836	chr5:52334221-52334222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185002375	chr5:52334258-52334259	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376944216	chr5:52334283-52334284	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557174079	chr5:52334315-52334316	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs3797497	chr5:52334318-52334319	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs539597817	chr5:52334340-52334341	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150471420	chr5:52334344-52334345	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34229205	chr5:52334363-52334364	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573542044	chr5:52334417-52334418	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189809163	chr5:52334467-52334468	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182832268	chr5:52334473-52334474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188301198	chr5:52334492-52334493	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12520747	chr5:52334508-52334509	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563196439	chr5:52334528-52334529	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368267694	chr5:52334531-52334532	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74948770	chr5:52334540-52334541	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201868503	chr5:52334541-52334542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76800107	chr5:52334575-52334576	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528406054	chr5:52334590-52334591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564354736	chr5:52334635-52334636	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546470153	chr5:52334648-52334649	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52307000-52333800	Weak transcription	Gastric	stomach
2	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:52317600-52333600	Weak transcription	Colonic Mucosa	Colon
4	chr5:52324200-52334200	Weak transcription	Spleen	Spleen
5	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:52327800-52333800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:52327800-52334400	Weak transcription	Pancreas	Pancrea
8	chr5:52327800-52344200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:52328400-52333800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:52328600-52335200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:52328800-52335800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:52328800-52348000	Weak transcription	Fetal Intestine Large	intestine
14	chr5:52329000-52334200	Weak transcription	Lung	lung
15	chr5:52329400-52335600	Weak transcription	Dnd41	blood
16	chr5:52331000-52333800	Enhancers	Hela-S3	cervix
17	chr5:52331000-52336200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:52331000-52337000	Weak transcription	Fetal Kidney	kidney
19	chr5:52331800-52333600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:52331800-52333800	Enhancers	NHLF	lung
21	chr5:52331800-52334400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:52331800-52334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:52331800-52334800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:52331800-52335200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:52331800-52337200	Enhancers	HUVEC	blood vessel
26	chr5:52332000-52334200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:52332000-52334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:52332000-52334600	Enhancers	NH-A	brain
29	chr5:52332000-52334600	Enhancers	Osteobl	bone
30	chr5:52332000-52334800	Enhancers	Brain Hippocampus Middle	brain
31	chr5:52332200-52334000	Enhancers	Small Intestine	intestine
32	chr5:52332400-52333600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:52332400-52334200	Weak transcription	Right Atrium	heart
34	chr5:52332400-52334600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:52332600-52333800	Enhancers	Colon Smooth Muscle	Colon
36	chr5:52332600-52333800	Enhancers	Stomach Smooth Muscle	stomach
37	chr5:52332800-52333600	Enhancers	HMEC	breast
38	chr5:52332800-52334200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:52332800-52334200	Weak transcription	Esophagus	oesophagus
40	chr5:52332800-52334800	Enhancers	Stomach Mucosa	stomach
41	chr5:52333000-52333600	Enhancers	Fetal Lung	lung
42	chr5:52333000-52333600	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:52333000-52334000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:52333000-52334000	Enhancers	HSMM	muscle
45	chr5:52333000-52334400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:52333000-52334800	Enhancers	Brain Substantia Nigra	brain
47	chr5:52333200-52333600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:52333200-52333600	Enhancers	Fetal Stomach	stomach
49	chr5:52333200-52333800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:52333200-52333800	Enhancers	Duodenum Smooth Muscle	Duodenum

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